Associated Papers
Prominent U-waves without QT prolongation in X-linked creatine transporter deficiency caused by SLC6A8 variants.
Delinière A et al.
Heart Rhythm, 2026
Diagnostic Utility of Trio-Exome Sequencing for Children With Neurodevelopmental Disorders.
Lan X et al.
Jama Network Open, 2025
40131272 (PubMed )
Supplement: jamanetwopen-e251807-s002.xlsx › eTable1
Diagnosis and Treatment of X-Linked Creatine Transporter Deficiency: Case Report and Literature Review.
Li J et al.
Brain Sciences, 2023
37891751 (PubMed )
Supplement: brainsci-13-01382-s001.zip › brainsci-2561128-supplementary.pdf
Fourteen cases of cerebral creatine deficiency syndrome in children: a cohort study in China.
Sun W et al.
Translational Pediatrics, 2023
[Advances in studies on cerebral creatine deficiency syndrome].
Sun WH et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2010
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